Double somatic mosaicism in a child with Dravet syndrome
نویسندگان
چکیده
منابع مشابه
Physical Education Intervention in a Child with Dravet Syndrome: A Case Study
Background. Dravet syndrome (DS) is an early-onset epileptic encephalopathy that leads to gross and fine motor skills deficits. Objectives. This study aimed to evaluate the results of a motor intervention program in a child with DS. Methods. We analyzed uma child with DS during the 3-year intervention in Physical Education. Interviews with the child’s mother and the teachers’ class diary were...
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Introduction Familial cold autoinflammatory syndrome, Muckle-Wells syndrome (MWS), and chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome are dominantly inherited autoinflammatory diseases associated to gain-of-function NLRP3 mutations. All these diseases are currently considered as different phenotypes of the cryopyrin-associated periodic syndromes (CAPS). A variable de...
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SCN1A mutations account for a large proportion of Dravet syndrome patients, and are reported in other cases of epilepsy, such as some families with genetic epilepsy with febrile seizures plus (GEFS+). While most Dravet syndrome cases are caused by de novo mutations, 5% inherit a mutation from a mildly affected or symptom-free parent. Parental mosaicism has been identified, with documented cases...
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Since the first report by Lejeune, Gautier, and Turpin in 1959 of the findings of trisomy 2I and a chromosome number of 47 in Down's syndrome (mongolism), several different chromosomal patterns have been described in patients with this disorder. One of these is chromosome mosaicism. In such cases, the patient may lack some of the features characteristic of the syndrome-and indeed some subjects ...
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Timothy syndrome type 1 (TS-1) is a rare disorder that affects multiple organ systems and has a high incidence of sudden death due to profound QT prolongation and resultant ventricular arrhythmias. All previously described cases of TS-1 are the result of a missense mutation in exon 8A (p.G406R), an alternatively spliced variant of the L-type calcium channel gene (Ca(v)1.2, CACNA1C). Most patien...
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ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2019
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000333